A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17378871



Internal ID22436741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:60688935..60692246hg38UCSC Ensembl
chr13:61263069..61266380hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg383312
hg193312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5932018
Supporting Variants
Samples
Known GenesLINC00378
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17378871
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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